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    TM7SF3 transmembrane 7 superfamily member 3 [ Homo sapiens (human) ]

    Gene ID: 51768, updated on 5-Mar-2024

    Summary

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    Official Symbol
    TM7SF3provided by HGNC
    Official Full Name
    transmembrane 7 superfamily member 3provided by HGNC
    Primary source
    HGNC:HGNC:23049
    See related
    Ensembl:ENSG00000064115 MIM:605181; AllianceGenome:HGNC:23049
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Involved in cellular response to unfolded protein; negative regulation of programmed cell death; and positive regulation of insulin secretion. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in kidney (RPKM 20.0), lung (RPKM 8.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TM7SF3 in Genome Data Viewer
    Location:
    12p11.23
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (26971579..27014384, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (26843586..26886386, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (27124512..27167317, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene integrator complex subunit 13 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:27091219-27091728 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:27091729-27092237 Neighboring gene FGFR1 oncogene partner 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4307 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4308 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6131 Neighboring gene mediator complex subunit 21 Neighboring gene MPRA-validated peak1625 silencer Neighboring gene chromosome 12 open reading frame 71

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Isolation and characterization of a novel gene encoding a putative seven-span transmembrane protein, TM7SF3. Akashi H, et al. Cytogenet Cell Genet, 2000. PMID 10828615
    2. TM7SF3, a novel p53-regulated homeostatic factor, attenuates cellular stress and the subsequent induction of the unfolded protein response. Isaac R, et al. Cell Death Differ, 2017 Jan. PMID 27740623, Free PMC Article
    3. An siRNA screen identifies transmembrane 7 superfamily member 3 (TM7SF3), a seven transmembrane orphan receptor, as an inhibitor of cytokine-induced death of pancreatic beta cells. Beck A, et al. Diabetologia, 2011 Nov. PMID 21853325
    4. A large-scale candidate gene association study of age at menarche and age at natural menopause. He C, et al. Hum Genet, 2010 Nov. PMID 20734064, Free PMC Article
    5. A trimeric Rab7 GEF controls NPC1-dependent lysosomal cholesterol export. van den Boomen DJH, et al. Nat Commun, 2020 Nov 3. PMID 33144569, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Lack of TM7SF3 activates nitric oxide production and the PKR-like ER kinase arm of the unfolded protein response that involves inhibition of eIF2alpha activity, enhanced expression of ATF4 and ATF3, and induction of CHOP that culminates in apoptosis.
      Title: TM7SF3, a novel p53-regulated homeostatic factor, attenuates cellular stress and the subsequent induction of the unfolded protein response.
    2. Data indicate that TM7SF3 plays a role in inhibition of cytokine-induced cell death/apoptosis in pancreatic beta cells and in inhibition of insulin secretion from pancreatic beta cells.
      Title: An siRNA screen identifies transmembrane 7 superfamily member 3 (TM7SF3), a seven transmembrane orphan receptor, as an inhibitor of cytokine-induced death of pancreatic beta cells.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: A large-scale candidate gene association study of age at menarche and age at natural menopause.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in cellular response to unfolded protein IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of programmed cell death IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of programmed cell death IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of insulin secretion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transmembrane 7 superfamily member 3
    Names
    seven span transmembrane protein
    seven transmembrane protein TM7SF3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_016551.3 → NP_057635.1  transmembrane 7 superfamily member 3 precursor

      See identical proteins and their annotated locations for NP_057635.1

      Status: VALIDATED

      Source sequence(s)
      AC024896, BC005176, DA719107
      Consensus CDS
      CCDS8710.1
      UniProtKB/Swiss-Prot
      B3KMZ3, Q9NS93, Q9NUS4
      Related
      ENSP00000342322.4, ENST00000343028.9
      Conserved Domains (1) summary
      pfam13886
      Location:296 → 503
      DUF4203; Domain of unknown function (DUF4203)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      26971579..27014384 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005253391.5 → XP_005253448.1  transmembrane 7 superfamily member 3 isoform X3

      Conserved Domains (1) summary
      pfam13886
      Location:296 → 452
      DUF4203; Domain of unknown function (DUF4203)

    2. XM_047428990.1 → XP_047284946.1  transmembrane 7 superfamily member 3 isoform X2

    3. XM_017019463.3 → XP_016874952.1  transmembrane 7 superfamily member 3 isoform X1

    4. XM_047428992.1 → XP_047284948.1  transmembrane 7 superfamily member 3 isoform X5

    5. XM_047428991.1 → XP_047284947.1  transmembrane 7 superfamily member 3 isoform X4

    6. XM_047428995.1 → XP_047284951.1  transmembrane 7 superfamily member 3 isoform X6

    7. XM_047428994.1 → XP_047284950.1  transmembrane 7 superfamily member 3 isoform X6

    8. XM_047428997.1 → XP_047284953.1  transmembrane 7 superfamily member 3 isoform X8

    9. XM_047428993.1 → XP_047284949.1  transmembrane 7 superfamily member 3 isoform X6

    10. XM_047428998.1 → XP_047284954.1  transmembrane 7 superfamily member 3 isoform X9

    11. XM_047428996.1 → XP_047284952.1  transmembrane 7 superfamily member 3 isoform X7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      26843586..26886386 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372260.1 → XP_054228235.1  transmembrane 7 superfamily member 3 isoform X3

    2. XM_054372259.1 → XP_054228234.1  transmembrane 7 superfamily member 3 isoform X2

    3. XM_054372258.1 → XP_054228233.1  transmembrane 7 superfamily member 3 isoform X1

    4. XM_054372262.1 → XP_054228237.1  transmembrane 7 superfamily member 3 isoform X5

    5. XM_054372261.1 → XP_054228236.1  transmembrane 7 superfamily member 3 isoform X4

    6. XM_054372265.1 → XP_054228240.1  transmembrane 7 superfamily member 3 isoform X6

    7. XM_054372264.1 → XP_054228239.1  transmembrane 7 superfamily member 3 isoform X6

    8. XM_054372267.1 → XP_054228242.1  transmembrane 7 superfamily member 3 isoform X8

    9. XM_054372263.1 → XP_054228238.1  transmembrane 7 superfamily member 3 isoform X6

    10. XM_054372268.1 → XP_054228243.1  transmembrane 7 superfamily member 3 isoform X9

    11. XM_054372266.1 → XP_054228241.1  transmembrane 7 superfamily member 3 isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NS93.1 GenPept UniProtKB/Swiss-Prot:Q9NS93

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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